Source: UNIPROT

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease 1.000 None 0.992 7 10 2001 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
disease 0.760 strong 1.000 10 9 2003 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease 0.700 None 1.000 7 6 2001 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease 0.700 None 1.000 2 5 2003 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
disease 0.600 None 1.000 14 24 2001 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.330 None 1.000 1 2 2009 2017